A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28073



Internal ID15497138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33767577..33769809hg38UCSC Ensembl
Outerchr16:33766296..33770385hg38UCSC Ensembl
Innerchr16:33570044..33572276hg19UCSC Ensembl
Outerchr16:33568763..33572852hg19UCSC Ensembl
Innerchr16:33477545..33479777hg18UCSC Ensembl
Outerchr16:33476264..33480353hg18UCSC Ensembl
Innerchr16:33477545..33479777hg17UCSC Ensembl
Outerchr16:33476264..33480353hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg384090
hg194090
hg184090
hg174090
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA19221
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv28073
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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